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Last Updated: 10/31/2025

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Found 1071 publications

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

Dosage sensitivity of the loop extrusion rate confers tunability to genome folding while creating vulnerability to genetic disruption.

Journal: bioRxiv : the preprint server for biology
Published: October 03, 2025

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome.

Journal: Frontiers in genetics
Published: July 21, 2025

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Interaction between long-range chromatin regulators Nipbl & Isl1 synergistically drives heart defects in mice.

Journal: bioRxiv : the preprint server for biology
Published: June 06, 2025

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Characterization of a difficult-to-treat epilepsy in a child with Cornelia de Lange syndrome with a pathogenic variant in NIPBL gene: a case report.

Journal: Seizure
Published: April 27, 2025

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

Journal: Biomedical reports
Published: April 25, 2025

Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Maxillary Sinus Angiosarcoma in Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Journal: Cureus
Published: April 22, 2025

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.

Journal: Prenatal diagnosis
Published: April 07, 2025

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Journal: Scientific reports
Published: April 02, 2025

Context-Dependent and Gene-Specific Role of Chromatin Architecture Mediated by Histone Modifiers and Loop-extrusion Machinery.

Context-Dependent and Gene-Specific Role of Chromatin Architecture Mediated by Histone Modifiers and Loop-extrusion Machinery.

Journal: bioRxiv : the preprint server for biology
Published: March 10, 2025

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from Rwanda.

Journal: BMC medical genomics
Published: January 28, 2025

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 23, 2025

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Journal: BMC ophthalmology
Published: January 23, 2025
Showing 1-12 of 1,071

Last Updated: 10/31/2025